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Items: 76

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:33877911-33877914
GRCh38:
Chr19:33387005-33387008
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr19:33877913-33877917
GRCh38:
Chr19:33387007-33387011
PEPDProlidase deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr19:33878039
GRCh38:
Chr19:33387133
PEPDProlidase deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr19:33878072-33878075
GRCh38:
Chr19:33387166-33387169
PEPDProlidase deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr19:33878095
GRCh38:
Chr19:33387189
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr19:33878197
GRCh38:
Chr19:33387291
PEPDProlidase deficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr19:33878198
GRCh38:
Chr19:33387292
PEPDProlidase deficiencyBenign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr19:33878210
GRCh38:
Chr19:33387304
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr19:33878262
GRCh38:
Chr19:33387356
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr19:33878347
GRCh38:
Chr19:33387441
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr19:33878367
GRCh38:
Chr19:33387461
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr19:33878371-33878373
GRCh38:
Chr19:33387465-33387467
PEPDProlidase deficiencyPathogenic
(Nov 1, 1996)
no assertion criteria provided
13.
GRCh37:
Chr19:33878398
GRCh38:
Chr19:33387492
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr19:33878798
GRCh38:
Chr19:33387892
PEPDProlidase deficiencyPathogenic
(Oct 1, 2002)
no assertion criteria provided
15.
GRCh37:
Chr19:33878811
GRCh38:
Chr19:33387905
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr19:33878823
GRCh38:
Chr19:33387917
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr19:33878829
GRCh38:
Chr19:33387923
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr19:33878831
GRCh38:
Chr19:33387925
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr19:33878837
GRCh38:
Chr19:33387931
PEPDProlidase deficiency, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr19:33878848
GRCh38:
Chr19:33387942
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr19:33878849
GRCh38:
Chr19:33387943
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr19:33878859
GRCh38:
Chr19:33387953
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr19:33878906
GRCh38:
Chr19:33388000
PEPDProlidase deficiencyPathogenic
(Dec 1, 2006)
no assertion criteria provided
24.
GRCh37:
Chr19:33878969
GRCh38:
Chr19:33388063
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr19:33878977
GRCh38:
Chr19:33388071
PEPDProlidase deficiency, not providedLikely benign
(Mar 29, 2017)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr19:33878984
GRCh38:
Chr19:33388078
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr19:33878993
GRCh38:
Chr19:33388087
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr19:33882222
GRCh38:
Chr19:33391316
PEPDProlidase deficiency, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr19:33882250
GRCh38:
Chr19:33391344
PEPDProlidase deficiencyPathogenic
(Apr 6, 2015)
no assertion criteria provided
30.
GRCh37:
Chr19:33882255
GRCh38:
Chr19:33391349
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr19:33882259
GRCh38:
Chr19:33391353
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr19:33882308
GRCh38:
Chr19:33391402
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr19:33892617
GRCh38:
Chr19:33401711
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr19:33892648
GRCh38:
Chr19:33401742
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr19:33892760
GRCh38:
Chr19:33401854
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr19:33892761
GRCh38:
Chr19:33401855
PEPDProlidase deficiencyPathogenic
(Nov 1, 1996)
no assertion criteria provided
37.
GRCh37:
Chr19:33892768
GRCh38:
Chr19:33401862
PEPDProlidase deficiencyPathogenic
(Jul 1, 1990)
no assertion criteria provided
38.
GRCh37:
Chr19:33892779
GRCh38:
Chr19:33401873
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr19:33902603
GRCh38:
Chr19:33411697
PEPDProlidase deficiencyPathogenic
(Apr 6, 2015)
no assertion criteria provided
40.
GRCh37:
Chr19:33902645
GRCh38:
Chr19:33411739
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr19:33902652
GRCh38:
Chr19:33411746
PEPDProlidase deficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr19:33904511
GRCh38:
Chr19:33413605
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr19:33904527-33904529
GRCh38:
Chr19:33413621-33413623
PEPDProlidase deficiencyConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr19:33904558
GRCh38:
Chr19:33413652
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr19:33953912
GRCh38:
Chr19:33463006
PEPDProlidase deficiency, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr19:33953938
GRCh38:
Chr19:33463032
PEPDProlidase deficiencyPathogenic
(Apr 6, 2015)
no assertion criteria provided
47.
GRCh37:
Chr19:33954878
GRCh38:
Chr19:33463972
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr19:33954894-33954906
GRCh38:
Chr19:33463988-33464000
PEPDProlidase deficiencyPathogenic
(Dec 1, 2006)
no assertion criteria provided
49.
GRCh37:
Chr19:33954912
GRCh38:
Chr19:33464006
PEPDProlidase deficiencyPathogenic
(Apr 6, 2015)
no assertion criteria provided
50.
GRCh37:
Chr19:33954966
GRCh38:
Chr19:33464060
PEPDProlidase deficiencyPathogenic
(Nov 1, 1996)
no assertion criteria provided
51.
GRCh37:
Chr19:33969005
GRCh38:
Chr19:33478099
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr19:33980913
GRCh38:
Chr19:33490007
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr19:33980943
GRCh38:
Chr19:33490037
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr19:33980949
GRCh38:
Chr19:33490043
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr19:33980957
GRCh38:
Chr19:33490051
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr19:33980958
GRCh38:
Chr19:33490052
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr19:33984210
GRCh38:
Chr19:33493304
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr19:34001984
GRCh38:
Chr19:33511078
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr19:34002004
GRCh38:
Chr19:33511098
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr19:34012667
GRCh38:
Chr19:33521761
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr19:34012671
GRCh38:
Chr19:33521765
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr19:34012696
GRCh38:
Chr19:33521790
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr19:34012704
GRCh38:
Chr19:33521798
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr19:34012727
GRCh38:
Chr19:33521821
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr19:34012796
GRCh38:
Chr19:33521890
PEPDProlidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr19:260912-58956888
A1BG, ACP5, ACTN4, AP2A1, AES, AKT2, AMH, APLP1, APOC1, APOC2, APOC4, APOE, KLK3, ASNA1, ATP1A3, ATP4A, ATP5D, AXL, AZU1, BAX, BCAT2, BCKDHA, BCL3, HCN2, CEACAM1, BLVRB, BSG, BST2, C3, C5AR1, CA11, CACNA1A, CALM3, CALR, CAPNS1, CAPS, CCNE1, CD22, CD33, SIGLEC6, CD37, CD70, CD79A, ADGRE5, CDC34, CDKN2D, CEACAM5, CEBPA, CEBPG, CGB3, CEACAM3, CEACAM7, CEACAM8, CEACAM4, CIRBP, TBCB, CKM, AP2S1, CLC, CLPTM1, CNN1, CNN2, COMP, COX6B1, COX7A1, CRX, CSNK1G2, NCAN, CYP2A6, CYP2A7, CYP2A13, CYP2B6, CYP2F1, DAPK3, DBP, CFD, DHPS, DMPK, DMWD, DNASE2, DNM2, DNMT1, ARID3A, ECH1, EEF2, EFNA2, MEGF8, ELANE, ELAVL1, ELAVL3, EMP3, ADGRE1, EPOR, NR2F6, ERCC1, ERCC2, ERF, FBL, ETFB, ETV2, FARSA, FCAR, FCER2, FCGRT, FLT3LG, FOSB, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, GAMT, GCDH, GDF1, GIPR, GNA11, GNA15, GNG7, GPI, GPR4, GPR32, FFAR1, FFAR3, GPR42, FFAR2, MKNK2, GPX4, GRIK5, GRIN2D, ARHGAP35, GSK3A, GTF2F1, GYS1, GZMM, HAS1, FOXA3, HNRNPL, HPN, HRC, PRMT1, DNAJB1, ICAM1, ICAM3, ICAM4, IL11, IL12RB1, ILF3, INSL3, INSR, IRF3, JAK3, JUNB, JUND, KCNA7, KCNC3, KCNJ14, KCNN1, KCNN4, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KLK1, KLK2, LAIR1, LAIR2, LDLR, LGALS4, LGALS7, LHB, LIG1, LIM2, LIPE, LRP3, CYP4F3, BCAM, LYL1, MAG, MAN2B1, MATK, RAB8A, MAP3K10, MLLT1, MYO1F, MYBPC2, GADD45B, MYO9B, HNRNPM, CEACAM6, NDUFA3, NDUFA7, NDUFB7, NFIC, NFIX, NFKBIB, NKG7, CNOT3, NOTCH3, NOVA2, NPAS1, NPHS1, NRTN, NTF4, NUCB1, OAZ1, P2RY11, PAFAH1B3, PALM, PDE4A, PDE4C, PEG3, PEPD, PIK3R2, PIN1, PLAUR, FXYD1, FXYD3, POLD1, POLR2E, POLR2I, POLRMT, POU2F2, PPP2R1A, PPP5C, PRKACA, PRKCG, PKN1, PRKCSH, MAP2K2, MAP2K7, PSPN, PRRG2, KLK7, KLK6, KLK10, PRTN3, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG9, PSG11, PSMC4, PSMD8, PTBP1, PTGER1, PTGIR, PTPRH, PTPRS, PVR, NECTIN2, RAB3A, RAD23A, RELB, UPF1, RFX1, RFX2, RPL18, RPL18A, RPL28, MRPS12, RPS5, RPS9, RPS11, RPS15, RPS16, RPS19, RPS28, RRAS, RTN2, RYR1, SAFB, CLEC11A, SCN1B, CCL25, SELENOW, SGTA, SH3GL1, SLC1A5, SLC1A6, SLC5A5, SLC8A2, SMARCA4, SNAPC2, SNRNP70, SNRPA, SNRPD2, SPIB, STK11, AURKC, STXBP2, SULT2B1, SULT2A1, SUPT5H, SYT5, TBXA2R, TCF3, PRDX2, TGFB1, THOP1, ICAM5, TLE2, TNNI3, TNNT1, TPM4, TRU-TCA1-1, TULP2, TYK2, TYROBP, UBA52, NR1H2, UQCRFS1, USF2, VASP, VAV1, XRCC1, ZFP36, ZNF8, ZNF14, ZNF708, ZNF17, ZNF20, ZNF28, ZNF43, ZNF45, ZNF69, ZNF221, ZNF85, ZNF90, ZNF91, ZNF99, ZNF222, ZNF121, ZNF132, ZNF134, ZNF135, ZNF136, ZNF137P, ZNF146, ZNF154, ZNF155, ZNF175, ZNF177, ZNF180, ZNF208, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF112, ZNF229, ZNF230, MADCAM1, SF3A2, ELL, SYMPK, MIA, CLPP, DPF1, LTBP4, TEAD2, RANBP3, CYP4F2, PPFIA3, KHSRP, PLA2G4C, PLPP2, RFXANK, EIF3G, STX10, S1PR4, URI1, TNFSF14, TNFSF9, NAPA, SIGLEC5, FCGBP, AP1M1, AP3D1, PGLYRP1, F2RL3, ARHGEF1, PDCD5, DYRK1B, LPAR2, RAB11B, CRLF1, NUMBL, CYTH2, S1PR2, ZNF235, TRIP10, LONP1, ZNF264, KCNK6, NCR1, MED26, HOMER3, IL27RA, NAPSA, GDF15, TECR, ZNF254, GMFG, RAB3D, APBA3, IER2, KLK4, SAFB2, ZNF432, DHX34, KIAA0355, ZNF536, KMT2B, KEAP1, MED16, CHAF1A, SH2D3A, AP1M2, UBA2, SAE1, SUGP2, EBI3, ZNF256, DDX39A, ZNF443, PLIN3, AKAP8, FSTL3, LILRB2, APC2, PAK4, B3GNT3, CLEC4M, ABCA7, HMG20B, KLF2, TUBB4A, TMEM147, IFI30, TOMM40, TIMM44, CARM1, SEMA6B, ZNF211, CHERP, RNASEH2A, RABAC1, SPINT2, KLF1, DLL3, CERS1, GIPC1, POP4, ZNF234, ZNF266, ZNF274, ZNF460, PPP1R13L, CD3EAP, RUVBL2, LILRB1, HCST, PNPLA6, KDELR1, UQCR11, LILRB5, ILVBL, LILRB4, KLK11, TMED1, LILRA1, LILRB3, LILRA3, LILRA2, UPK1A, HNRNPUL1, CLASRP, KPTN, SLC7A9, CDC37, MAP4K1, KLK8, CYP4F8, PNKP, COPE, U2AF2, ATF5, ZFP30, ZNF507, ADGRL1, PPP6R1, CARD8, SBNO2, SIRT2, CYP2G1P, MAST1, UNC13A, KDM4B, MAST3, SIPA1L3, FCHO1, CIC, ZC3H4, ZFR2, SIN3B, HAUS5, ARHGEF18, CRTC1, MAU2, PIP5K1C, FBXO46, ETHE1, BRD4, RPL13A, ARHGAP45, SYNGR4, LILRA4, PRG1, CASP14, ZIM2, CBLC, NUP62, HSPBP1, PPP1R15A, PLD3, FKBP8, EML2, SHC2, TMEM59L, PGLS, LSM4, KLK5, ZNF345, PRKD2, RPL36, ZNF473, KANK2, CLIP3, FAM32A, LSM14A, KLK13, CCDC9, PRPF31, IRF2BP1, FGF21, GAPDHS, OR7A17, TIMM13, TSPAN16, DAZAP1, OR10H3, OR10H2, OR10H1, OR7E24, OR7C2, OR7A5, OR7C1, ZNF285, AKAP8L, FGF22, ZBTB32, SIGLEC7, LYPD3, ARRDC2, BBC3, DKKL1, TJP3, CPAMD8, SIGLEC9, SIGLEC8, C5AR2, NMRK2, DHDH, ZNF544, EIF3K, UBE2S, SLC6A16, C19orf53, BABAM1, LGALS13, UHRF1, CYP2S1, TFPT, STRN4, CCDC106, HOOK2, EPN1, SERTAD3, SERTAD1, SLC39A3, NOP53, BICRA, TNPO2, ADGRE2, CD209, EHD2, KLK14, KLK12, COL5A3, RDH8, SHANK1, NOSIP, MRPL4, NDUFA13, ANGPTL4, ZNF580, HSD17B14, GP6, VRK3, MARCH2, ZNF571, GMIP, CD320, ECSIT, THEG, ZBTB7A, FZR1, WDR83OS, ISYNA1, ZNF581, SIRT6, PIAS4, LSR, LSM7, ZNF44, TM6SF2, MBD3, PTOV1, S1PR5, FXYD7, FXYD5, RAB4B, MIER2, DDX49, PAF1, PCSK4, PPP1R12C, TRPM4, ZNF586, ZNF562, QPCTL, GATAD2A, BEST2, FBXL12, FAM83E, PGPEP1, CC2D1A, EPS8L1, RASIP1, TMEM161A, SARS2, TMEM160, C19orf24, PIH1D1, REX1BD, GPATCH1, SAMD4B, DMAC2, PLEKHJ1, C19orf73, MAP1S, PNMA8A, TMEM143, KLHL26, ZNF444, C19orf66, ZNF331, FEM1A, ZNF823, KLK15, MED29, STAP2, TRMT1, BTBD2, NLRP2, RNF126, ZNF416, CCDC94, ASF1B, ZNF701, ZNF83, ZNF415, USE1, PSENEN, ZNF302, ANGPTL8, LIN37, MYDGF, SMG9, ZNF253, IRGC, SLC7A10, PPAN, CABP5, RETN, SPHK2, LGALS14, EXOSC5, MEIS3, NCLN, GPR108, SPPL2B, DUS3L, XAB2, SHD, CEACAM19, SLC17A7, NAT14, CD177, ATP13A1, RGL3, SLC44A2, VN1R1, MCOLN1, RCN3, ZNF304, TTYH1, WDR18, REXO1, PNMA8B, ZNF490, PRR12, DOCK6, ZNF471, ZNF492, TSHZ3, LRFN1, GRAMD1A, CAMSAP3, USP29, PLEKHA4, ZFP14, ZNF317, ZNF529, PRX, ANO8, SPTBN4, MARK4, SUGP1, HAMP, CATSPERG, CYP4F11, ZNF71, ZNF77, SCAF1, CACTIN, PRODH2, EPS15L1, WIZ, CACNG8, CACNG7, CACNG6, UBL5, ZNF350, TSKS, CELF5, ZNF667, DMRTC2, C19orf33, ELSPBP1, LIN7B, HIF3A, CHST8, ZNF574, PLEKHG2, RASAL3, MRPL34, KRI1, ZSWIM4, ZNF649, ZSCAN18, CYP4F12, YIPF2, TRIR, DDA1, KXD1, TMEM38A, TSEN34, KCTD15, SLC25A23, SMIM7, ZNF426, TRAPPC6A, MBOAT7, FKRP, ZSCAN5A, PLEKHF1, LENG1, LILRA6, RBM42, C19orf57, ZNF576, FSD1, ZNF557, LRFN3, ABHD8, CERS4, OCEL1, ZNF329, COLGALT1, IGFLR1, TBC1D17, ZNF419, GEMIN7, ISOC2, MYH14, ZNF665, TLE6, ZNF552, EPHX3, PODNL1, ZNF671, ZNF613, COQ8B, CNTD2, SLC35E1, PLPPR3, DENND1C, ZNF442, ZNF556, ZNF606, ZNF614, LRRC8E, FUZ, OPA3, ZNF430, ITPKC, UBXN6, PBX4, IQCN, B9D2, RSPH6A, CCDC130, ACSBG2, ADAMTS10, ZNF611, MED25, QTRT1, ABHD17A, ZNF93, DOHH, PLVAP, RTBDN, BCL2L12, C19orf12, TEX101, GRWD1, ANGPTL6, KLF16, USHBP1, WDR87, TSSK6, CCDC8, KIRREL2, ANKRD27, PRAM1, C19orf44, ZNF541, MRI1, SYT3, FBXW9, ALKBH7, WDR83, PDCD2L, ZNF414, AKT1S1, ELOF1, ZNF528, DOT1L, BRSK1, ZNF333, FBN3, ZNF527, CNFN, ZNF559, KISS1R, ADGRE3, ZNF347, CREB3L3, GTPBP3, ZNF577, MPV17L2, ZNF607, KMT5C, C19orf48, NFKBID, LMNB2, RAX2, CEP89, ZNF382, ZNF587, FIZ1, ZNF566, MUM1, HSH2D, MPND, ALKBH6, ATG4D, ATCAY, SYDE1, RHPN2, MBD3L1, GALP, SIGLEC10, SIGLEC12, ZNF628, MIDN, ZNF30, ZNF551, CEACAM21, ZNF616, ZNF766, CCDC97, EXOC3L2, ZNF468, ZNF160, CTU1, SAMD1, DCAF15, GADD45GIP1, ZNF835, YIF1B, ZNF799, TIMM29, ZNF625, ZNF700, ZNF439, ZNF486, DPP9, ZNF682, R3HDM4, TMEM259, FAAP24, TDRD12, ZNF765, NLRP12, MYADM, ZNF845, TPGS1, ZNF461, ZNF585B, CRB3, TIMM50, SHKBP1, REEP6, PEX11G, DMKN, ZNF561, OLFM2, CCDC114, HAUS8, MVB12A, ARMC6, ACP4, CGB5, MUC16, CGB7, LRRC4B, ZNF101, LENG9, CGB8, GNG8, PPP1R14A, EGLN2, BIRC8, FAM71E1, RDH13, FDX1L, NACC1, PTH2, IZUMO4, SCAMP4, ADAT3, ZNF257, ZIM3, SIGLEC11, CGB1, CGB2, PGLYRP2, LMTK3, LENG8, CCDC124, ZNF554, FBXO17, KIR3DL3, ARHGAP33, EVI5L, RASGRP4, NXNL1, CCDC151, ZNF653, ZNF526, ZNF837, GRIN3B, MRPL54, LRG1, CIB3, RLN3, CLDND2, ZNF816, ZNF543, CEACAM20, RAVER1, OR7D4, OR7G1, OR1M1, COX6B2, CALR3, ACER1, C19orf70, MBD3L2, TRAPPC5, PCP2, OSCAR, ZNF813, ZNF441, ZNF491, ZNF440, SWSAP1, CCDC159, JOSD2, IZUMO2, CPT1C, ALDH16A1, NTN5, NLRP13, NLRP8, NLRP5, ZNF787, ZNF573, WDR88, TMIGD2, EID2B, TNFAIP8L1, IRGQ, ZNF428, JSRP1, MOB3A, MFSD12, GIPC3, NDUFA11, MISP, LRRC25, OR1I1, WTIP, ZNF792, NR2C2AP, HSPB6, CCDC105, CYP4F22, RINL, FBXO27, PLK5, C19orf47, OR10H4, ANKLE1, C2CD4C, ZNF358, ZFP28, VSIG10L, ZNF480, ZNF534, ZNF578, ERVV-1, SMIM17, C19orf18, ZNF418, ZNF417, ZNF548, PPM1N, KLC3, IGSF23, LYPD4, ZNF560, TMEM190, HIPK4, TMC4, ZNF524, ZNF784, ZNF563, SPC24, CCDC155, DACT3, SIX5, IGFL2, ZNF420, ZNF565, NLRP4, ZNF582, ZNF583, FAM98C, CAPN12, DPY19L3, LGALS16, TTC9B, TICAM1, ZNRF4, ZNF599, FAM187B, CILP2, PROSER3, ZNF558, CDC42EP5, ZNF98, ZNF714, ZNF681, C19orf25, ATP8B3, DIRAS1, ZNF555, ZNF569, ZNF570, ZNF836, ZNF610, ZNF600, ZNF320, ZNF497, ZNF550, ZNF296, DEDD2, ZNF846, OR7D2, ZNF579, ZNF791, ZNF564, ZNF709, ZNF433, ZNF114, ZNF567, ZNF383, ZNF781, EID2, ZNF780B, PRR22, LGI4, SYNE4, ZNF676, ZNF100, ZNF540, SSBP4, ZNF431, ANKRD24, SPACA4, ZNF675, MCEMP1, ZNF627, DAND5, ZNF585A, NLRP7, GGN, CADM4, THAP8, U2AF1L4, ZNF626, FAM129C, ADM5, ZNF584, ZSCAN4, NLRP11, TMEM86B, CBARP, INAFM1, C19orf38, ZNF549, SYCE2, KANK3, TINCR, CATSPERD, IL4I1, IFNL2, IFNL3, IFNL1, SSC5D, ZNF547, ZIK1, ZNF776, ZSCAN1, ZNF780A, C19orf54, PRR19, TMEM145, CXCL17, ZNF575, LYPD5, ZNF283, PPP1R37, NKPD1, TPRX1, MAMSTR, IZUMO1, EMC10, KLK9, SIGLECL1, ZNF615, ZNF841, ACTL9, OR2Z1, ZNF763, ZNF844, SCGB2B2, WDR62, ZFP82, VSTM1, TMEM150B, FAM71E2, SMIM24, SLC25A41, MBD3L5, OR10H5, NWD1, SLC25A42, ZNF493, ODF3L2, HKR1, VN1R2, VN1R4, ADGRE4P, NLRP9, ZNF181, ZNF260, ZNF546, MYPOP, NANOS2, ADAMTSL5, CLEC4G, VSTM2B, ZNF850, NCCRP1, SYCN, LEUTX, ZNF404, ZNF284, C19orf81, ZNF677, RFPL4A, ZSCAN5B, ZSCAN22, NANOS3, PALM3, SELENOV, ZNF530, DNAAF3, ZNF429, ZNF233, LILRA5, TMPRSS9, NDUFS7, PEAK3, HSD11B1L, TEX45, ZNF699, TMEM205, YJEFN3, SBSN, ZNF829, ZNF568, B3GNT8, IGFL1, ZSWIM9, ZNF773, SLC27A1, CLEC17A, ZNF728, RGS9BP, KRTDAP, ZNF790, CEACAM16, BLOC1S3, IGFL3, ZNF808, ZNF888, ZNF761, TMEM238, ZNF470, ZNF749, ONECUT3, OR7G2, OR7G3, OR7A10, NUDT19, ZNF793, ACP7, PINLYP, ZNF805, SPRED3, MEX3D, PRSS57, VMAC, LOC400706, ZNF880, ZNF772, IGLON5, HAPLN4, CTXN1, MIRLET7E, MIR125A, MIR150, MIR181C, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR99B, PLIN5, ZNF506, PSG8, TARM1, MIR371A, MIR372, MIR373, IGFL4, DPRX, DUXA, KIR3DP1, ASPDH, MIR519D, MIR520H, TMEM91, SDHAF1, LINGO3, ARRDC5, C19orf67, SBK2, UCA1, PSG10P, LGALS7B, PHLDB3, MBD3L4, MBD3L3, PPAN-P2RY11, OVOL3, PLIN4, CCDC61, ZNF812P, ZNF878, CEACAM18, SHISA7, RFPL4AL1, BORCS8, ZNF814, ZNF726, SIGLEC14, ZGLP1, C19orf71, ZNF730, ZNF737, TMEM221, BSPH1, PET100, SRRM5, ERICH4, ERVV-2, MEF2B, ZNF729, ZNF587B, MIR1909, PPP5D1, ZNF865, LOC100507551, TGFBR3L, LOC100507646, ERVK3-1, ZNF559-ZNF177, ZNF816-ZNF321P, PTOV1-AS2, ZIM2-AS1
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
67.
GRCh37:
Chr19:260912-58956888
A1BG, ACP5, ACTN4, AP2A1, AES, AKT2, AMH, APLP1, APOC1, APOC2, APOC4, APOE, KLK3, ASNA1, ATP1A3, ATP4A, ATP5D, AXL, AZU1, BAX, BCAT2, BCKDHA, BCL3, HCN2, CEACAM1, BLVRB, BSG, BST2, C3, C5AR1, CA11, CACNA1A, CALM3, CALR, CAPNS1, CAPS, CCNE1, CD22, CD33, SIGLEC6, CD37, CD70, CD79A, ADGRE5, CDC34, CDKN2D, CEACAM5, CEBPA, CEBPG, CGB3, CEACAM3, CEACAM7, CEACAM8, CEACAM4, CIRBP, TBCB, CKM, AP2S1, CLC, CLPTM1, CNN1, CNN2, COMP, COX6B1, COX7A1, CRX, CSNK1G2, NCAN, CYP2A6, CYP2A7, CYP2A13, CYP2B6, CYP2F1, DAPK3, DBP, CFD, DHPS, DMPK, DMWD, DNASE2, DNM2, DNMT1, ARID3A, ECH1, EEF2, EFNA2, MEGF8, ELANE, ELAVL1, ELAVL3, EMP3, ADGRE1, EPOR, NR2F6, ERCC1, ERCC2, ERF, FBL, ETFB, ETV2, FARSA, FCAR, FCER2, FCGRT, FLT3LG, FOSB, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, GAMT, GCDH, GDF1, GIPR, GNA11, GNA15, GNG7, GPI, GPR4, GPR32, FFAR1, FFAR3, GPR42, FFAR2, MKNK2, GPX4, GRIK5, GRIN2D, ARHGAP35, GSK3A, GTF2F1, GYS1, GZMM, HAS1, FOXA3, HNRNPL, HPN, HRC, PRMT1, DNAJB1, ICAM1, ICAM3, ICAM4, IL11, IL12RB1, ILF3, INSL3, INSR, IRF3, JAK3, JUNB, JUND, KCNA7, KCNC3, KCNJ14, KCNN1, KCNN4, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KLK1, KLK2, LAIR1, LAIR2, LDLR, LGALS4, LGALS7, LHB, LIG1, LIM2, LIPE, LRP3, CYP4F3, BCAM, LYL1, MAG, MAN2B1, MATK, RAB8A, MAP3K10, MLLT1, MYO1F, MYBPC2, GADD45B, MYO9B, HNRNPM, CEACAM6, NDUFA3, NDUFA7, NDUFB7, NFIC, NFIX, NFKBIB, NKG7, CNOT3, NOTCH3, NOVA2, NPAS1, NPHS1, NRTN, NTF4, NUCB1, OAZ1, P2RY11, PAFAH1B3, PALM, PDE4A, PDE4C, PEG3, PEPD, PIK3R2, PIN1, PLAUR, FXYD1, FXYD3, POLD1, POLR2E, POLR2I, POLRMT, POU2F2, PPP2R1A, PPP5C, PRKACA, PRKCG, PKN1, PRKCSH, MAP2K2, MAP2K7, PSPN, PRRG2, KLK7, KLK6, KLK10, PRTN3, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG9, PSG11, PSMC4, PSMD8, PTBP1, PTGER1, PTGIR, PTPRH, PTPRS, PVR, NECTIN2, RAB3A, RAD23A, RELB, UPF1, RFX1, RFX2, RPL18, RPL18A, RPL28, MRPS12, RPS5, RPS9, RPS11, RPS15, RPS16, RPS19, RPS28, RRAS, RTN2, RYR1, SAFB, CLEC11A, SCN1B, CCL25, SELENOW, SGTA, SH3GL1, SLC1A5, SLC1A6, SLC5A5, SLC8A2, SMARCA4, SNAPC2, SNRNP70, SNRPA, SNRPD2, SPIB, STK11, AURKC, STXBP2, SULT2B1, SULT2A1, SUPT5H, SYT5, TBXA2R, TCF3, PRDX2, TGFB1, THOP1, ICAM5, TLE2, TNNI3, TNNT1, TPM4, TRU-TCA1-1, TULP2, TYK2, TYROBP, UBA52, NR1H2, UQCRFS1, USF2, VASP, VAV1, XRCC1, ZFP36, ZNF8, ZNF14, ZNF708, ZNF17, ZNF20, ZNF28, ZNF43, ZNF45, ZNF69, ZNF221, ZNF85, ZNF90, ZNF91, ZNF99, ZNF222, ZNF121, ZNF132, ZNF134, ZNF135, ZNF136, ZNF137P, ZNF146, ZNF154, ZNF155, ZNF175, ZNF177, ZNF180, ZNF208, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF112, ZNF229, ZNF230, MADCAM1, SF3A2, ELL, SYMPK, MIA, CLPP, DPF1, LTBP4, TEAD2, RANBP3, CYP4F2, PPFIA3, KHSRP, PLA2G4C, PLPP2, RFXANK, EIF3G, STX10, S1PR4, URI1, TNFSF14, TNFSF9, NAPA, SIGLEC5, FCGBP, AP1M1, AP3D1, PGLYRP1, F2RL3, ARHGEF1, PDCD5, DYRK1B, LPAR2, RAB11B, CRLF1, NUMBL, CYTH2, S1PR2, ZNF235, TRIP10, LONP1, ZNF264, KCNK6, NCR1, MED26, HOMER3, IL27RA, NAPSA, GDF15, TECR, ZNF254, GMFG, RAB3D, APBA3, IER2, KLK4, SAFB2, ZNF432, DHX34, KIAA0355, ZNF536, KMT2B, KEAP1, MED16, CHAF1A, SH2D3A, AP1M2, UBA2, SAE1, SUGP2, EBI3, ZNF256, DDX39A, ZNF443, PLIN3, AKAP8, FSTL3, LILRB2, APC2, PAK4, B3GNT3, CLEC4M, ABCA7, HMG20B, KLF2, TUBB4A, TMEM147, IFI30, TOMM40, TIMM44, CARM1, SEMA6B, ZNF211, CHERP, RNASEH2A, RABAC1, SPINT2, KLF1, DLL3, CERS1, GIPC1, POP4, ZNF234, ZNF266, ZNF274, ZNF460, PPP1R13L, CD3EAP, RUVBL2, LILRB1, HCST, PNPLA6, KDELR1, UQCR11, LILRB5, ILVBL, LILRB4, KLK11, TMED1, LILRA1, LILRB3, LILRA3, LILRA2, UPK1A, HNRNPUL1, CLASRP, KPTN, SLC7A9, CDC37, MAP4K1, KLK8, CYP4F8, PNKP, COPE, U2AF2, ATF5, ZFP30, ZNF507, ADGRL1, PPP6R1, CARD8, SBNO2, SIRT2, CYP2G1P, MAST1, UNC13A, KDM4B, MAST3, SIPA1L3, FCHO1, CIC, ZC3H4, ZFR2, SIN3B, HAUS5, ARHGEF18, CRTC1, MAU2, PIP5K1C, FBXO46, ETHE1, BRD4, RPL13A, ARHGAP45, SYNGR4, LILRA4, PRG1, CASP14, ZIM2, CBLC, NUP62, HSPBP1, PPP1R15A, PLD3, FKBP8, EML2, SHC2, TMEM59L, PGLS, LSM4, KLK5, ZNF345, PRKD2, RPL36, ZNF473, KANK2, CLIP3, FAM32A, LSM14A, KLK13, CCDC9, PRPF31, IRF2BP1, FGF21, GAPDHS, OR7A17, TIMM13, TSPAN16, DAZAP1, OR10H3, OR10H2, OR10H1, OR7E24, OR7C2, OR7A5, OR7C1, ZNF285, AKAP8L, FGF22, ZBTB32, SIGLEC7, LYPD3, ARRDC2, BBC3, DKKL1, TJP3, CPAMD8, SIGLEC9, SIGLEC8, C5AR2, NMRK2, DHDH, ZNF544, EIF3K, UBE2S, SLC6A16, C19orf53, BABAM1, LGALS13, UHRF1, CYP2S1, TFPT, STRN4, CCDC106, HOOK2, EPN1, SERTAD3, SERTAD1, SLC39A3, NOP53, BICRA, TNPO2, ADGRE2, CD209, EHD2, KLK14, KLK12, COL5A3, RDH8, SHANK1, NOSIP, MRPL4, NDUFA13, ANGPTL4, ZNF580, HSD17B14, GP6, VRK3, MARCH2, ZNF571, GMIP, CD320, ECSIT, THEG, ZBTB7A, FZR1, WDR83OS, ISYNA1, ZNF581, SIRT6, PIAS4, LSR, LSM7, ZNF44, TM6SF2, MBD3, PTOV1, S1PR5, FXYD7, FXYD5, RAB4B, MIER2, DDX49, PAF1, PCSK4, PPP1R12C, TRPM4, ZNF586, ZNF562, QPCTL, GATAD2A, BEST2, FBXL12, FAM83E, PGPEP1, CC2D1A, EPS8L1, RASIP1, TMEM161A, SARS2, TMEM160, C19orf24, PIH1D1, REX1BD, GPATCH1, SAMD4B, DMAC2, PLEKHJ1, C19orf73, MAP1S, PNMA8A, TMEM143, KLHL26, ZNF444, C19orf66, ZNF331, FEM1A, ZNF823, KLK15, MED29, STAP2, TRMT1, BTBD2, NLRP2, RNF126, ZNF416, CCDC94, ASF1B, ZNF701, ZNF83, ZNF415, USE1, PSENEN, ZNF302, ANGPTL8, LIN37, MYDGF, SMG9, ZNF253, IRGC, SLC7A10, PPAN, CABP5, RETN, SPHK2, LGALS14, EXOSC5, MEIS3, NCLN, GPR108, SPPL2B, DUS3L, XAB2, SHD, CEACAM19, SLC17A7, NAT14, CD177, ATP13A1, RGL3, SLC44A2, VN1R1, MCOLN1, RCN3, ZNF304, TTYH1, WDR18, REXO1, PNMA8B, ZNF490, PRR12, DOCK6, ZNF471, ZNF492, TSHZ3, LRFN1, GRAMD1A, CAMSAP3, USP29, PLEKHA4, ZFP14, ZNF317, ZNF529, PRX, ANO8, SPTBN4, MARK4, SUGP1, HAMP, CATSPERG, CYP4F11, ZNF71, ZNF77, SCAF1, CACTIN, PRODH2, EPS15L1, WIZ, CACNG8, CACNG7, CACNG6, UBL5, ZNF350, TSKS, CELF5, ZNF667, DMRTC2, C19orf33, ELSPBP1, LIN7B, HIF3A, CHST8, ZNF574, PLEKHG2, RASAL3, MRPL34, KRI1, ZSWIM4, ZNF649, ZSCAN18, CYP4F12, YIPF2, TRIR, DDA1, KXD1, TMEM38A, TSEN34, KCTD15, SLC25A23, SMIM7, ZNF426, TRAPPC6A, MBOAT7, FKRP, ZSCAN5A, PLEKHF1, LENG1, LILRA6, RBM42, C19orf57, ZNF576, FSD1, ZNF557, LRFN3, ABHD8, CERS4, OCEL1, ZNF329, COLGALT1, IGFLR1, TBC1D17, ZNF419, GEMIN7, ISOC2, MYH14, ZNF665, TLE6, ZNF552, EPHX3, PODNL1, ZNF671, ZNF613, COQ8B, CNTD2, SLC35E1, PLPPR3, DENND1C, ZNF442, ZNF556, ZNF606, ZNF614, LRRC8E, FUZ, OPA3, ZNF430, ITPKC, UBXN6, PBX4, IQCN, B9D2, RSPH6A, CCDC130, ACSBG2, ADAMTS10, ZNF611, MED25, QTRT1, ABHD17A, ZNF93, DOHH, PLVAP, RTBDN, BCL2L12, C19orf12, TEX101, GRWD1, ANGPTL6, KLF16, USHBP1, WDR87, TSSK6, CCDC8, KIRREL2, ANKRD27, PRAM1, C19orf44, ZNF541, MRI1, SYT3, FBXW9, ALKBH7, WDR83, PDCD2L, ZNF414, AKT1S1, ELOF1, ZNF528, DOT1L, BRSK1, ZNF333, FBN3, ZNF527, CNFN, ZNF559, KISS1R, ADGRE3, ZNF347, CREB3L3, GTPBP3, ZNF577, MPV17L2, ZNF607, KMT5C, C19orf48, NFKBID, LMNB2, RAX2, CEP89, ZNF382, ZNF587, FIZ1, ZNF566, MUM1, HSH2D, MPND, ALKBH6, ATG4D, ATCAY, SYDE1, RHPN2, MBD3L1, GALP, SIGLEC10, SIGLEC12, ZNF628, MIDN, ZNF30, ZNF551, CEACAM21, ZNF616, ZNF766, CCDC97, EXOC3L2, ZNF468, ZNF160, CTU1, SAMD1, DCAF15, GADD45GIP1, ZNF835, YIF1B, ZNF799, TIMM29, ZNF625, ZNF700, ZNF439, ZNF486, DPP9, ZNF682, R3HDM4, TMEM259, FAAP24, TDRD12, ZNF765, NLRP12, MYADM, ZNF845, TPGS1, ZNF461, ZNF585B, CRB3, TIMM50, SHKBP1, REEP6, PEX11G, DMKN, ZNF561, OLFM2, CCDC114, HAUS8, MVB12A, ARMC6, ACP4, CGB5, MUC16, CGB7, LRRC4B, ZNF101, LENG9, CGB8, GNG8, PPP1R14A, EGLN2, BIRC8, FAM71E1, RDH13, FDX1L, NACC1, PTH2, IZUMO4, SCAMP4, ADAT3, ZNF257, ZIM3, SIGLEC11, CGB1, CGB2, PGLYRP2, LMTK3, LENG8, CCDC124, ZNF554, FBXO17, KIR3DL3, ARHGAP33, EVI5L, RASGRP4, NXNL1, CCDC151, ZNF653, ZNF526, ZNF837, GRIN3B, MRPL54, LRG1, CIB3, RLN3, CLDND2, ZNF816, ZNF543, CEACAM20, RAVER1, OR7D4, OR7G1, OR1M1, COX6B2, CALR3, ACER1, C19orf70, MBD3L2, TRAPPC5, PCP2, OSCAR, ZNF813, ZNF441, ZNF491, ZNF440, SWSAP1, CCDC159, JOSD2, IZUMO2, CPT1C, ALDH16A1, NTN5, NLRP13, NLRP8, NLRP5, ZNF787, ZNF573, WDR88, TMIGD2, EID2B, TNFAIP8L1, IRGQ, ZNF428, JSRP1, MOB3A, MFSD12, GIPC3, NDUFA11, MISP, LRRC25, OR1I1, WTIP, ZNF792, NR2C2AP, HSPB6, CCDC105, CYP4F22, RINL, FBXO27, PLK5, C19orf47, OR10H4, ANKLE1, C2CD4C, ZNF358, ZFP28, VSIG10L, ZNF480, ZNF534, ZNF578, ERVV-1, SMIM17, C19orf18, ZNF418, ZNF417, ZNF548, PPM1N, KLC3, IGSF23, LYPD4, ZNF560, TMEM190, HIPK4, TMC4, ZNF524, ZNF784, ZNF563, SPC24, CCDC155, DACT3, SIX5, IGFL2, ZNF420, ZNF565, NLRP4, ZNF582, ZNF583, FAM98C, CAPN12, DPY19L3, LGALS16, TTC9B, TICAM1, ZNRF4, ZNF599, FAM187B, CILP2, PROSER3, ZNF558, CDC42EP5, ZNF98, ZNF714, ZNF681, C19orf25, ATP8B3, DIRAS1, ZNF555, ZNF569, ZNF570, ZNF836, ZNF610, ZNF600, ZNF320, ZNF497, ZNF550, ZNF296, DEDD2, ZNF846, OR7D2, ZNF579, ZNF791, ZNF564, ZNF709, ZNF433, ZNF114, ZNF567, ZNF383, ZNF781, EID2, ZNF780B, PRR22, LGI4, SYNE4, ZNF676, ZNF100, ZNF540, SSBP4, ZNF431, ANKRD24, SPACA4, ZNF675, MCEMP1, ZNF627, DAND5, ZNF585A, NLRP7, GGN, CADM4, THAP8, U2AF1L4, ZNF626, FAM129C, ADM5, ZNF584, ZSCAN4, NLRP11, TMEM86B, CBARP, INAFM1, C19orf38, ZNF549, SYCE2, KANK3, TINCR, CATSPERD, IL4I1, IFNL2, IFNL3, IFNL1, SSC5D, ZNF547, ZIK1, ZNF776, ZSCAN1, ZNF780A, C19orf54, PRR19, TMEM145, CXCL17, ZNF575, LYPD5, ZNF283, PPP1R37, NKPD1, TPRX1, MAMSTR, IZUMO1, EMC10, KLK9, SIGLECL1, ZNF615, ZNF841, ACTL9, OR2Z1, ZNF763, ZNF844, SCGB2B2, WDR62, ZFP82, VSTM1, TMEM150B, FAM71E2, SMIM24, SLC25A41, MBD3L5, OR10H5, NWD1, SLC25A42, ZNF493, ODF3L2, HKR1, VN1R2, VN1R4, ADGRE4P, NLRP9, ZNF181, ZNF260, ZNF546, MYPOP, NANOS2, ADAMTSL5, CLEC4G, VSTM2B, ZNF850, NCCRP1, SYCN, LEUTX, ZNF404, ZNF284, C19orf81, ZNF677, RFPL4A, ZSCAN5B, ZSCAN22, NANOS3, PALM3, SELENOV, ZNF530, DNAAF3, ZNF429, ZNF233, LILRA5, TMPRSS9, NDUFS7, PEAK3, HSD11B1L, TEX45, ZNF699, TMEM205, YJEFN3, SBSN, ZNF829, ZNF568, B3GNT8, IGFL1, ZSWIM9, ZNF773, SLC27A1, CLEC17A, ZNF728, RGS9BP, KRTDAP, ZNF790, CEACAM16, BLOC1S3, IGFL3, ZNF808, ZNF888, ZNF761, TMEM238, ZNF470, ZNF749, ONECUT3, OR7G2, OR7G3, OR7A10, NUDT19, ZNF793, ACP7, PINLYP, ZNF805, SPRED3, MEX3D, PRSS57, VMAC, LOC400706, ZNF880, ZNF772, IGLON5, HAPLN4, CTXN1, MIRLET7E, MIR125A, MIR150, MIR181C, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR99B, PLIN5, ZNF506, PSG8, TARM1, MIR371A, MIR372, MIR373, IGFL4, DPRX, DUXA, KIR3DP1, ASPDH, MIR519D, MIR520H, TMEM91, SDHAF1, LINGO3, ARRDC5, C19orf67, SBK2, UCA1, PSG10P, LGALS7B, PHLDB3, MBD3L4, MBD3L3, PPAN-P2RY11, OVOL3, PLIN4, CCDC61, ZNF812P, ZNF878, CEACAM18, SHISA7, RFPL4AL1, BORCS8, ZNF814, ZNF726, SIGLEC14, ZGLP1, C19orf71, ZNF730, ZNF737, TMEM221, BSPH1, PET100, SRRM5, ERICH4, ERVV-2, MEF2B, ZNF729, ZNF587B, MIR1909, PPP5D1, ZNF865, LOC100507551, TGFBR3L, LOC100507646, ERVK3-1, ZNF559-ZNF177, ZNF816-ZNF321P, PTOV1-AS2, ZIM2-AS1
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
68.
GRCh37:
Chr19:33762256-34353184
CEBPA, CEBPG, PEPD, CHST8, KCTD15See casesLikely benign
(Jun 22, 2015)
no assertion criteria provided
69.
GRCh37:
Chr19:30735448-36120396
See casesPathogenicno assertion criteria provided
70.
GRCh37:
Chr19:28271146-35274846
GRCh38:
Chr19:27780238-34783942
See casesUncertain significance
(Mar 10, 2014)
no assertion criteria provided
71.
GRCh37:
Chr19:31858259-35908000
GRCh38:
Chr19:31367353-35417098
See casesPathogenic
(Jun 25, 2013)
no assertion criteria provided
72.
GRCh37:
Chr19:30162231-38393630
GRCh38:
Chr19:29671324-37902990
See casesPathogenic
(Jan 30, 2010)
no assertion criteria provided
73.
GRCh37:
Chr19:30152765-38605363
GRCh38:
Chr19:29661858-38114723
See casesPathogenic
(Oct 20, 2010)
no assertion criteria provided
74.
GRCh37:
Chr19:11338618-45129651
GRCh38:
Chr19:11227942-44626354
ACP5, ACTN4, AKT2, APLP1, ASNA1, ATP1A3, ATP4A, AXL, BCKDHA, CEACAM1, BLVRB, BST2, CACNA1A, CALR, CAPNS1, CCNE1, CD22, CD79A, ADGRE5, CEACAM5, CEBPA, CEBPG, CEACAM3, CEACAM7, CEACAM8, CEACAM4, TBCB, CLC, CNN1, COMP, COX6B1, COX7A1, NCAN, CYP2A6, CYP2A7, CYP2A13, CYP2B6, CYP2F1, DHPS, DNASE2, ECH1, MEGF8, ELAVL3, EPOR, NR2F6, ERF, FBL, ETV2, FARSA, GCDH, GDF1, GPI, FFAR1, FFAR3, GPR42, FFAR2, GRIK5, GSK3A, HNRNPL, HPN, DNAJB1, IL12RB1, INSL3, JAK3, JUNB, JUND, KCNN1, KCNN4, LGALS4, LGALS7, LIPE, LRP3, CYP4F3, LYL1, MAG, MAN2B1, BORCS8-MEF2B, RAB8A, MAP3K10, MYO9B, CEACAM6, NDUFB7, NFIX, NFKBIB, NOTCH3, NPHS1, PAFAH1B3, PDE4C, PEPD, PIK3R2, PLAUR, FXYD1, FXYD3, POLR2I, POU2F2, PRKACA, PKN1, PRKCSH, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG9, PSG11, PSMC4, PSMD8, PTGER1, RAB3A, RAD23A, UPF1, RFX1, RPL18A, MRPS12, RPS16, RPS19, RYR1, SCN1B, SLC1A6, SLC5A5, SNRPA, SUPT5H, PRDX2, TGFB1, TPM4, TYROBP, UBA52, UQCRFS1, USF2, XRCC1, ZFP36, ZNF14, ZNF708, ZNF20, ZNF43, ZNF45, ZNF56, ZNF66, ZNF69, ZNF221, ZNF85, ZNF90, ZNF91, ZNF99, ZNF222, ZNF136, ZNF146, ZNF155, ZNF180, ZNF208, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF112, ZNF229, ZNF230, ELL, MIA, DPF1, LTBP4, CYP4F2, RFXANK, STX10, URI1, FCGBP, AP1M1, F2RL3, ARHGEF1, PDCD5, DYRK1B, LPAR2, CRLF1, NUMBL, ZNF235, KCNK6, MED26, HOMER3, IL27RA, GDF15, TECR, ZNF254, GMFG, RAB3D, IER2, KIAA0355, ZNF536, KMT2B, UBA2, SUGP2, DDX39A, ZNF443, AKAP8, PAK4, B3GNT3, KLF2, TMEM147, IFI30, CHERP, RNASEH2A, RABAC1, SPINT2, KLF1, DLL3, CERS1, GIPC1, POP4, ZNF234, HCST, ILVBL, UPK1A, HNRNPUL1, SLC7A9, MAP4K1, CYP4F8, COPE, ZFP30, ZNF507, ADGRL1, SIRT2, CYP2G1P, MAST1, UNC13A, MAST3, SIPA1L3, FCHO1, CIC, SIN3B, HAUS5, CRTC1, MAU2, ETHE1, BRD4, PRG1, CASP14, PLD3, FKBP8, TMEM59L, PGLS, LSM4, ZNF345, CLIP3, FAM32A, LSM14A, GAPDHS, OR7A17, TSPAN16, OR10H3, OR10H2, OR10H1, OR7C2, OR7A5, OR7C1, SNORA68, SNORD41, ZNF285, AKAP8L, ZBTB32, LYPD3, ARRDC2, CPAMD8, EIF3K, C19orf53, BABAM1, LGALS13, CYP2S1, HOOK2, SERTAD3, SERTAD1, TNPO2, ADGRE2, NDUFA13, ZNF571, GMIP, ECSIT, WDR83OS, ISYNA1, LSR, ZNF44, TM6SF2, FXYD7, FXYD5, RAB4B, DDX49, PAF1, GATAD2A, BEST2, PGPEP1, CC2D1A, TMEM161A, SARS2, REX1BD, GPATCH1, SAMD4B, DMAC2, MAP1S, KLHL26, ZNF823, MED29, TRMT1, ASF1B, USE1, PSENEN, ZNF302, ANGPTL8, LIN37, SMG9, ZNF253, IRGC, SLC7A10, LGALS14, EXOSC5, CD177, ATP13A1, RGL3, ZNF490, DOCK6, ZNF492, TSHZ3, LRFN1, GRAMD1A, ZFP14, ZNF529, PRX, ANO8, SPTBN4, SUGP1, HAMP, CATSPERG, CYP4F11, PRODH2, EPS15L1, WIZ, DMRTC2, C19orf33, CHST8, PLPPR2, ZNF574, PLEKHG2, RASAL3, MRPL34, ZSWIM4, CYP4F12, TRIR, DDA1, KXD1, TMEM38A, KCTD15, SMIM7, PLEKHF1, RBM42, C19orf57, ZNF576, LRFN3, ABHD8, OCEL1, COLGALT1, IGFLR1, EPHX3, PODNL1, COQ8B, CNTD2, SLC35E1, ZNF442, CEBPA-AS1, ZNF430, ITPKC, PBX4, KIAA1683, B9D2, CCDC130, ZNF93, PLVAP, RTBDN, C19orf12, TEX101, USHBP1, WDR87, TSSK6, KIRREL2, ANKRD27, C19orf44, MRI1, FBXW9, WDR83, PDCD2L, ELOF1, ZNF333, ZNF527, CNFN, ADGRE3, GTPBP3, MPV17L2, ZNF607, NFKBID, CEP89, ZNF382, ZNF566, HSH2D, ALKBH6, SYDE1, RHPN2, ZNF30, CEACAM21, CCDC97, SAMD1, DCAF15, GADD45GIP1, YIF1B, ZNF799, ZNF625, ZNF700, ZNF439, ZNF486, ZNF682, FAAP24, TDRD12, ZNF461, ZNF585B, TIMM50, SHKBP1, DMKN, HAUS8, MVB12A, ARMC6, ZNF101, PPP1R14A, EGLN2, NACC1, MISP3, ZNF257, PGLYRP2, CCDC124, FBXO17, ARHGAP33, RASGRP4, NXNL1, CCDC151, ZNF653, ZNF526, CIB3, RLN3, CEACAM20, CALR3, ZNF441, ZNF491, ZNF440, SWSAP1, CCDC159, ZNF573, WDR88, EID2B, IRGQ, ZNF428, LRRC25, OR1I1, WTIP, ZNF792, NR2C2AP, HSPB6, CCDC105, CYP4F22, RINL, FBXO27, C19orf47, LINC00661, OR10H4, ANKLE1, IGSF23, LYPD4, HIPK4, ZNF563, ZNF420, ZNF565, FAM98C, CAPN12, DPY19L3, LGALS16, TTC9B, ZNF599, FAM187B, CILP2, PROSER3, LINC00906, LINC00662, ZNF98, ZNF738, ZNF714, ZNF681, LINC00905, ZNF569, ZNF570, DEDD2, ZNF791, ZNF564, ZNF709, ZNF433, ZNF567, ZNF383, ZNF781, EID2, ZNF780B, LGI4, SYNE4, ZNF676, ZNF100, ZNF540, SSBP4, ZNF431, ZNF675, ZNF627, DAND5, ZNF585A, GGN, CADM4, THAP8, U2AF1L4, ZNF626, FAM129C, SYCE2, IFNL2, IFNL3, IFNL1, ZNF780A, C19orf54, PRR19, TMEM145, CXCL17, LOC284344, ZNF575, LYPD5, ZNF283, ZNF763, ZNF844, LOC284395, SCGB2B2, WDR62, ZFP82, ZNF790-AS1, LOC284412, OR10H5, NWD1, SLC25A42, LINC00663, ZNF493, LOC284454, HKR1, ZNF181, ZNF260, ZNF546, VSTM2B, ZNF850, NCCRP1, SYCN, LEUTX, ZNF404, ZNF284, NANOS3, PALM3, SELENOV, ZNF429, ZNF233, TMEM205, YJEFN3, LINC01785, SBSN, ZNF829, ZNF568, B3GNT8, SLC27A1, ZNF788, CLEC17A, ZNF728, RPSAP58, RGS9BP, KRTDAP, ZNF790, OR7A10, NUDT19, ZNF793, ACP7, LOC390937, PINLYP, SPRED3, LINC00664, LOC400682, LOC400684, LINC01801, HAPLN4, MIR181C, MIR23A, MIR24-2, MIR27A, ZNF506, ZNF724, PSG8, MIR181D, TMEM91, CCER2, LINC01529, SDHAF1, LOC644554, C19orf67, ZNF723, LOC648044, UCA1, PSG10P, LGALS7B, PHLDB3, MIR639, MIR640, MIR641, OVOL3, LOC728485, LOC728752, ZNF878, LOC729966, BORCS8, ZNF726, LINC01233, HPN-AS1, LINC01531, ZNF730, ZNF807, ZNF737, TMEM221, LOC100134317, SRRM5, ERICH4, TRT-AGT1-3, TRI-TAT1-1, MEF2B, ZNF729, LOC100289333, PSG8-AS1, MIR1470, MIR1270, LOC100379224, MIR3188, MIR3189, MIR4323, PCAT19, LOC100505585, LOC100505622, LOC100505715, LINC01532, LOC100505851, TMEM147-AS1, LINC00665, LOC100507373, ZNF571-AS1, THEG5, LOC100507551, LOC100507646, MIA-RAB4B, RAB4B-EGLN2, ZNF625-ZNF20, MIR4530, LOC100631378, LINC00904, LINC01838, MIR5695, MIR5196, MIR5684, UPK1A-AS1, LIPE-AS1, LINC01533, IFNL4, LOC101927151, LINC01782, LOC101927572, ZNF529-AS1, LINC01534, LINC01535, ZNF793-AS1, LINC01480, LOC101928063, LOC101928464, LINC01842, LOC101929124, LINC01858, LINC01859, LOC101930071, MIR6795, MIR6796, MIR6797, MIR7974, MIR8077, MIR6719, MIR6794, MIR6887, MIR1199, MIR6515, ZNF30-AS1, LINC01766, LINC01835, LOC102724360, LOC102724908, LOC102724958, LOC102725254, LINC01224, BISPR, GNG14, LINC01841, LINC01764, LINC01855, FFAR2, LOC105372383, LOC105372397, SNORD135, SNORA104, LINC01791
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
75.
GRCh37:
Chr19:17287576-35415054
GRCh38:
Chr19:17176767-34924150
BST2, CCNE1, CEBPA, CEBPG, COMP, NCAN, NR2F6, GDF1, GPI, IL12RB1, INSL3, JAK3, JUND, KCNN1, LRP3, BORCS8-MEF2B, MYO9B, PDE4C, PEPD, PIK3R2, RAB3A, UPF1, RPL18A, SLC5A5, UBA52, UQCRFS1, ZNF14, ZNF708, ZNF43, ZNF56, ZNF66, ZNF85, ZNF90, ZNF91, ZNF99, ZNF208, ELL, RFXANK, URI1, PDCD5, LPAR2, CRLF1, HOMER3, GDF15, ZNF254, KIAA0355, ZNF536, UBA2, SUGP2, B3GNT3, IFI30, CERS1, POP4, SLC7A9, COPE, ZNF507, UNC13A, MAST3, FCHO1, CRTC1, MAU2, FKBP8, TMEM59L, PGLS, LSM4, LSM14A, SNORA68, ARRDC2, BABAM1, NDUFA13, GMIP, ISYNA1, TM6SF2, DDX49, GATAD2A, PGPEP1, TMEM161A, REX1BD, GPATCH1, MAP1S, KLHL26, USE1, ZNF302, ZNF253, SLC7A10, ATP13A1, ZNF492, TSHZ3, ANO8, SUGP1, CHST8, MRPL34, DDA1, KXD1, KCTD15, PLEKHF1, ABHD8, OCEL1, COLGALT1, CEBPA-AS1, ZNF430, PBX4, KIAA1683, ZNF93, PLVAP, C19orf12, USHBP1, TSSK6, ANKRD27, PDCD2L, GTPBP3, MPV17L2, CEP89, RHPN2, ZNF30, ZNF486, ZNF682, FAAP24, TDRD12, MVB12A, ARMC6, ZNF101, ZNF257, CCDC124, NXNL1, WDR88, LRRC25, WTIP, NR2C2AP, ANKLE1, DPY19L3, ZNF599, CILP2, LINC00906, LINC00662, ZNF98, ZNF738, ZNF714, ZNF681, ZNF676, ZNF100, SSBP4, ZNF431, ZNF675, ZNF626, FAM129C, LOC284395, SCGB2B2, SLC25A42, LINC00663, ZNF493, ZNF181, VSTM2B, ZNF429, YJEFN3, LINC01785, SLC27A1, ZNF728, RPSAP58, RGS9BP, NUDT19, LINC00664, LOC400682, LOC400684, LINC01801, HAPLN4, ZNF506, ZNF724, ZNF723, MIR640, LOC729966, BORCS8, ZNF726, LINC01233, ZNF730, ZNF807, ZNF737, TMEM221, TRT-AGT1-3, MEF2B, ZNF729, MIR1270, MIR3188, MIR3189, LINC01532, LOC100505851, THEG5, LOC100507551, LINC00904, LINC01838, LINC01533, LOC101927151, LINC01782, LOC101929124, LINC01858, LINC01859, ZNF30-AS1, LOC102724360, LOC102724908, LOC102724958, LOC102725254, LINC01224, BISPR, LINC01791
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
76.
GRCh37:
Chr19:33878749-33879530
GRCh38:
Chr19:33387843-33388624
PEPDProlidase deficiencyPathogenic
(Apr 1, 1991)
no assertion criteria provided
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